三眼畸形与面部裂：一例报告
Triophthalmia and facial clefting: a case report.
作者信息
Tayel S M, Sabry M A, Kader N A, Farah S, Al-Awadi S A, Farag T I
机构信息
Kuwait Medical Genetics Centre.
出版信息
J Med Genet. 1998 Oct;35(10):875-7. doi: 10.1136/jmg.35.10.875.
Abstract
We describe a Libyan boy with an unusual phenotype of multiple congenital anomalies, including triophthalmia, dolichocephaly, porencephaly, cleft lip/palate, facial asymmetry, micrognathia, and VSD. The reported phenotype is likely to represent a new entity of non-chromosomal syndromic triophthalmia. Other possibilities are discussed.
摘要
我们描述了一名患有多种先天性异常罕见表型的利比亚男孩，这些异常包括三眼畸形、长头畸形、脑穿通畸形、唇腭裂、面部不对称、小颌畸形和室间隔缺损。所报道的表型可能代表一种非染色体综合征性三眼畸形的新病症。文中还讨论了其他可能性。
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